The Hermansky-Pudlak syndrome
M S Parker1, W Rosado Shipley, M L de Christenson
1University of Texas Southwestern Medical Center at Dallas, Department of Diagnostic Radiology 75235, USA.
Abstract:
Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease. This report discusses the lung involvement often seen in this condition correlated with radiography, computed tomography, high-resolution computed tomography, and the underlying pathology, by means of two such afflicted siblings. The elder died of respiratory failure while awaiting lung transplantation. The younger sibling is currently undergoing evaluation for transplantation.
Related Concept Videos
Pleiotropy
Lysosomal Hydrolases
Protein Import into the Peroxisomes
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hyperosmolar Hyperglycemic State
Huntington Disease l: Introduction


